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Page 1
Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma: A Report From the Children's Oncology Group.
Martin-Giacalone BA, Li H, Scheurer ME, Casey DL, Dugan-Perez S, Marquez-Do DA, Muzny D, Gibbs RA, Barkauskas DA, Hall D, Stewart DR, Schiffman JD, McEvoy MT, Khan J, Malkin D, Linardic CM, Crompton BD, Shern JF, Skapek SX, Venkatramani R, Hawkins DS, Sabo A, Plon SE, Lupo PJ. Martin-Giacalone BA, et al. Among authors: dugan perez s. JAMA Netw Open. 2024 Mar 4;7(3):e244170. doi: 10.1001/jamanetworkopen.2024.4170. JAMA Netw Open. 2024. PMID: 38546643 Free PMC article.
Human whole-exome genotype data for Alzheimer's disease.
Leung YY, Naj AC, Chou YF, Valladares O, Schmidt M, Hamilton-Nelson K, Wheeler N, Lin H, Gangadharan P, Qu L, Clark K, Kuzma AB, Lee WP, Cantwell L, Nicaretta H; Alzheimer’s Disease Sequencing Project; Haines J, Farrer L, Seshadri S, Brkanac Z, Cruchaga C, Pericak-Vance M, Mayeux RP, Bush WS, Destefano A, Martin E, Schellenberg GD, Wang LS. Leung YY, et al. Nat Commun. 2024 Jan 23;15(1):684. doi: 10.1038/s41467-024-44781-7. Nat Commun. 2024. PMID: 38263370 Free PMC article.
Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality.
Hong YS, Battle SL, Shi W, Puiu D, Pillalamarri V, Xie J, Pankratz N, Lake NJ, Lek M, Rotter JI, Rich SS, Kooperberg C, Reiner AP, Auer PL, Heard-Costa N, Liu C, Lai M, Murabito JM, Levy D, Grove ML, Alonso A, Gibbs R, Dugan-Perez S, Gondek LP, Guallar E, Arking DE. Hong YS, et al. Among authors: dugan perez s. Nat Commun. 2023 Sep 30;14(1):6113. doi: 10.1038/s41467-023-41785-7. Nat Commun. 2023. PMID: 37777527 Free PMC article.
Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthma.
Recto K, Kachroo P, Huan T, Van Den Berg D, Lee GY, Bui H, Lee DH, Gereige J, Yao C, Hwang SJ, Joehanes R, Weiss ST; NHLBI Trans-Omics in Precision Medicine (TOPMed) Consortium; O'Connor GT, Levy D, DeMeo DL. Recto K, et al. EBioMedicine. 2023 Sep;95:104758. doi: 10.1016/j.ebiom.2023.104758. Epub 2023 Aug 18. EBioMedicine. 2023. PMID: 37598461 Free PMC article.
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
Author Correction: Clonal haematopoiesis and risk of chronic liver disease.
Wong WJ, Emdin C, Bick AG, Zekavat SM, Niroula A, Pirruccello JP, Dichtel L, Griffin G, Uddin MM, Gibson CJ, Kovalcik V, Lin AE, McConkey ME, Vromman A, Sellar RS, Kim PG, Agrawal M, Weinstock J, Long MT, Yu B, Banerjee R, Nicholls RC, Dennis A, Kelly M, Loh PR, McCarroll S, Boerwinkle E, Vasan RS, Jaiswal S, Johnson AD, Chung RT, Corey K, Levy D, Ballantyne C; NHLBI TOPMed Hematology Working Group; Ebert BL, Natarajan P. Wong WJ, et al. Nature. 2023 Jul;619(7970):E47. doi: 10.1038/s41586-023-06375-z. Nature. 2023. PMID: 37400552 No abstract available.
Clonal haematopoiesis and risk of chronic liver disease.
Wong WJ, Emdin C, Bick AG, Zekavat SM, Niroula A, Pirruccello JP, Dichtel L, Griffin G, Uddin MM, Gibson CJ, Kovalcik V, Lin AE, McConkey ME, Vromman A, Sellar RS, Kim PG, Agrawal M, Weinstock J, Long MT, Yu B, Banerjee R, Nicholls RC, Dennis A, Kelly M, Loh PR, McCarroll S, Boerwinkle E, Vasan RS, Jaiswal S, Johnson AD, Chung RT, Corey K, Levy D, Ballantyne C; NHLBI TOPMed Hematology Working Group; Ebert BL, Natarajan P. Wong WJ, et al. Nature. 2023 Apr;616(7958):747-754. doi: 10.1038/s41586-023-05857-4. Epub 2023 Apr 12. Nature. 2023. PMID: 37046084 Free PMC article.
Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis.
Weinstock JS, Gopakumar J, Burugula BB, Uddin MM, Jahn N, Belk JA, Bouzid H, Daniel B, Miao Z, Ly N, Mack TM, Luna SE, Prothro KP, Mitchell SR, Laurie CA, Broome JG, Taylor KD, Guo X, Sinner MF, von Falkenhausen AS, Kääb S, Shuldiner AR, O'Connell JR, Lewis JP, Boerwinkle E, Barnes KC, Chami N, Kenny EE, Loos RJF, Fornage M, Hou L, Lloyd-Jones DM, Redline S, Cade BE, Psaty BM, Bis JC, Brody JA, Silverman EK, Yun JH, Qiao D, Palmer ND, Freedman BI, Bowden DW, Cho MH, DeMeo DL, Vasan RS, Yanek LR, Becker LC, Kardia SLR, Peyser PA, He J, Rienstra M, Van der Harst P, Kaplan R, Heckbert SR, Smith NL, Wiggins KL, Arnett DK, Irvin MR, Tiwari H, Cutler MJ, Knight S, Muhlestein JB, Correa A, Raffield LM, Gao Y, de Andrade M, Rotter JI, Rich SS, Tracy RP, Konkle BA, Johnsen JM, Wheeler MM, Smith JG, Melander O, Nilsson PM, Custer BS, Duggirala R, Curran JE, Blangero J, McGarvey S, Williams LK, Xiao S, Yang M, Gu CC, Chen YI, Lee WJ, Marcus GM, Kane JP, Pullinger CR, Shoemaker MB, Darbar D, Roden DM, Albert C, Kooperberg C, Zhou Y, Manson JE, Desai P, Johnson AD, Mathias RA; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Blackwell TW, Abecasis GR, Smith AV, Kang HM, Satpathy A… See abstract for full author list ➔ Weinstock JS, et al. Nature. 2023 Apr;616(7958):755-763. doi: 10.1038/s41586-023-05806-1. Epub 2023 Apr 12. Nature. 2023. PMID: 37046083 Free PMC article.
Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.
Sok P, Sabo A, Almli LM, Jenkins MM, Nembhard WN, Agopian AJ, Bamshad MJ, Blue EE, Brody LC, Brown AL, Browne ML, Canfield MA, Carmichael SL, Chong JX, Dugan-Perez S, Feldkamp ML, Finnell RH, Gibbs RA, Kay DM, Lei Y, Meng Q, Moore CA, Mullikin JC, Muzny D, Olshan AF, Pangilinan F, Reefhuis J, Romitti PA, Schraw JM, Shaw GM, Werler MM, Harpavat S, Lupo PJ; University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program, the National Birth Defects Prevention Study. Sok P, et al. Among authors: dugan perez s. Am J Med Genet A. 2023 Jun;191(6):1546-1556. doi: 10.1002/ajmg.a.63185. Epub 2023 Mar 21. Am J Med Genet A. 2023. PMID: 36942736
Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies.
Li X, Quick C, Zhou H, Gaynor SM, Liu Y, Chen H, Selvaraj MS, Sun R, Dey R, Arnett DK, Bielak LF, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Correa A, Cupples LA, Curran JE, de Vries PS, Duggirala R, Freedman BI, Göring HHH, Guo X, Haessler J, Kalyani RR, Kooperberg C, Kral BG, Lange LA, Manichaikul A, Martin LW, McGarvey ST, Mitchell BD, Montasser ME, Morrison AC, Naseri T, O'Connell JR, Palmer ND, Peyser PA, Psaty BM, Raffield LM, Redline S, Reiner AP, Reupena MS, Rice KM, Rich SS, Sitlani CM, Smith JA, Taylor KD, Vasan RS, Willer CJ, Wilson JG, Yanek LR, Zhao W; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Lipids Working Group; Rotter JI, Natarajan P, Peloso GM, Li Z, Lin X. Li X, et al. Nat Genet. 2023 Jan;55(1):154-164. doi: 10.1038/s41588-022-01225-6. Epub 2022 Dec 23. Nat Genet. 2023. PMID: 36564505 Free PMC article.
29 results